Canonical Allele Identifier: CA363498646
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038452_32038453del , CM000668.2:g.32038452_32038453del GRCh38
NC_000006.11:g.32006229_32006230del , CM000668.1:g.32006229_32006230del GRCh37
NC_000006.10:g.32114208_32114209del NCBI36
NG_007941.2:g.5145_5146del
NG_007941.3:g.5148_5149del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.30_31del MANE Select ENSP00000496625.1:p.Leu12AlafsTer?
ENST00000418967.6:c.30_31del ENSP00000408860.2:p.Leu12AlafsTer?
ENST00000435122.3:c.30_31del ENSP00000415043.2:p.Leu12AlafsTer?
ENST00000466779.5:c.30_31del ENSP00000417321.1:p.Leu12AlafsTer?
ENST00000469053.5:c.30_31del ENSP00000418104.1:p.Leu12AlafsTer?
ENST00000471671.4:c.30_31del ENSP00000418561.1:p.Leu12AlafsTer?
ENST00000478281.5:c.30_31del ENSP00000419572.1:p.Leu12AlafsTer?
ENST00000479074.5:n.88_89del
ENST00000479730.5:n.88_89del
ENST00000480027.1:n.83_84del
ENST00000483041.5:n.83_84del
ENST00000486063.5:n.113_114del
ENST00000488465.1:n.38_39del
NM_000500.7:c.30_31del NP_000491.4:p.Leu12AlafsTer?
NM_001128590.3:c.30_31del NP_001122062.3:p.Leu12AlafsTer?
XM_011514314.1:c.-395_-394del XP_011512616.1:n.-395_-394del
NM_000500.9:c.30_31del MANE Select NP_000491.4:p.Leu12AlafsTer?
NM_001368143.1:c.-395_-394del NP_001355072.1:n.-395_-394del
NM_001368144.1:c.-305_-304del NP_001355073.1:n.-305_-304del
NM_001128590.4:c.30_31del NP_001122062.3:p.Leu12AlafsTer?
NM_001368143.2:c.-395_-394del NP_001355072.1:n.-395_-394del
NM_001368144.2:c.-305_-304del NP_001355073.1:n.-305_-304del